| Molecular analysis of Fragile X syndrome. | |
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MedLine Citation:
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PMID: 19806593 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The gene responsible for Fragile X syndrome, fragile X mental retardation-1 (FMR1), contains an unstable sequence of CGG trinucleotide repeats in its promoter region. Expansions of >200 trinucleotide repeats are considered full mutations and typically lead to abnormal methylation of the region resulting in loss of FMR1 expression. Males with loss of FMR1 protein are expected to be affected by Fragile X syndrome while females may or may not clinically manifest features of the condition. The protocols in this unit outline the complementary use of polymerase chain reaction (PCR) and methylation-sensitive Southern blot hybridization to accurately measure trinucleotide repeat size and methylation status. These protocols are also used to evaluate CGG repeat size in two adult-onset conditions known for their association with FMR1 premutation alleles, Fragile X Tremor/Ataxia (FXTAS) syndrome and Premature Ovarian Failure (POF). |
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Authors:
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Monica J Basehore; Michael J Friez |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] Volume: Chapter 9 ISSN: 1934-8258 ISO Abbreviation: - Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-06 Completed Date: 2009-11-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101287858 Medline TA: Curr Protoc Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: Unit 9.5 Citation Subset: IM |
Copyright Information:
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(c) 2009 by John Wiley & Sons, Inc. |
Affiliation:
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Greenwood Genetic Center, Greenwood, South Carolina, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Blotting, Southern Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics* Humans Male Polymerase Chain Reaction Trinucleotide Repeats |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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